Anemia, and Peripheral neuropathy

Diseases related with Anemia and Peripheral neuropathy

In the following list you will find some of the most common rare diseases related to Anemia and Peripheral neuropathy that can help you solving undiagnosed cases.


Top matches:

Low match BLOOD GROUP, SS; SS


Ss blood group antigens reside on the red-cell glycoprotein GYPB. The S and s antigens result from a polymorphism at amino acid 29 of GYPB, where S has met29 and s has thr29. The U antigen refers to a short extracellular sequence in GYPB located near the membrane. GYPB, glycophorin A (GYPA ), and glycophorin E (GYPE ) are closely linked on chromosome 4q31. Antigens of the MN blood group (OMIM ) reside on GYPA. The M and N antigens differ at amino acids 1 and 5 of GYPA, where M is ser-ser-thr-thr-gly, and N is leu-ser-thr-thr-glu. The N terminus of GYPB is essentially identical to that of GYPA except that it always expresses the N antigen, denoted 'N' or N-prime. Recombination and gene conversion between GYPA, GYPB, and GYPE lead to hybrid glycophorin molecules and generation of low-incidence antigens. Thus, the MN and Ss blood groups are together referred to as the MNSs blood group system (see {111300}). Recombination results in 3 glycophorin-null phenotypes: En(a-) cells lack GYPA due to recombination between GYPA and GYPB; GYPB-negative (S-s-U-) cells lack GYPB due to recombination in GYPB; and M(k) cells (M-N-S-s-U-) lack both GYPA and GYPB due to recombination between GYPA and GYPE. Individuals with glycophorin-null phenotypes have decreased sialic acid content and increased resistance to malarial infection (see {611162}). GYPA and GYPB are not essential for red-cell development or survival, and GYPA- and GYPB-null phenotypes are not associated with anemia or altered red-cell function (review by Cooling, 2015).

BLOOD GROUP, SS; SS Is also known as ss blood group

Related symptoms:

  • Neoplasm
  • Anemia


SOURCES: OMIM MENDELIAN

More info about BLOOD GROUP, SS; SS

Low match DIAMOND-BLACKFAN ANEMIA 17; DBA17


Related symptoms:

  • Anemia
  • Hyperpigmentation of the skin


SOURCES: OMIM MENDELIAN

More info about DIAMOND-BLACKFAN ANEMIA 17; DBA17

Low match GLUTAMATE-CYSTEINE LIGASE DEFICIENCY


Gamma-glutamylcysteine synthetase deficiency is principally characterized by hemolytic anemia, (usually rather mild), however, the presence of neurological symptoms has also been reported.

GLUTAMATE-CYSTEINE LIGASE DEFICIENCY Is also known as gamma-glutamylcysteine synthetase deficiency

Related symptoms:

  • Anemia
  • Myopathy
  • Abnormality of metabolism/homeostasis
  • Hemolytic anemia
  • Polyneuropathy


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about GLUTAMATE-CYSTEINE LIGASE DEFICIENCY

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Other less relevant matches:

Low match BLOOD GROUP, MN; MN


MN antigens reside on GYPA, one of the most abundant red-cell glycoproteins. The M and N antigens are 2 autosomal codominant antigens encoded by the first 5 amino acids of GYPA and include 3 O-linked glycans as part of the epitope. M and N differ at amino acids 1 and 5, where M is ser-ser-thr-thr-gly, and N is leu-ser-thr-thr-glu. M is the ancestral GYPA allele and is common in all human populations and Old World apes. GYPA, glycophorin B (GYPB ), and glycophorin E (GYPE ) are closely linked on chromosome 4q31. The N terminus of GYPB is essentially identical to that of GYPA except that it always expresses the N antigen, denoted 'N' or N-prime. Antigens of the Ss blood group (OMIM ) reside on GYPB, and recombination and gene conversion between GYPA, GYPB, and GYPE lead to hybrid glycophorin molecules and generation of low-incidence antigens. Thus, the MN and Ss blood groups are together referred to as the MNSs or MNS blood group system. The U antigen refers to a short extracellular sequence in GYPB located near the membrane. Recombination results in 3 glycophorin-null phenotypes: En(a-) cells lack GYPA due to recombination between GYPA and GYPB; GYPB-negative (S-s-U-) cells lack GYPB due to recombination in GYPB; and M(k) cells (M-N-S-s-U-) lack both GYPA and GYPB due to recombination between GYPA and GYPE. Individuals with glycophorin-null phenotypes have decreased sialic acid content and increased resistance to malarial infection (see {611162}). GYPA and GYPB are not essential for red-cell development or survival, and GYPA- and GYPB-null phenotypes are not associated with anemia or altered red-cell function (review by Cooling, 2015).

BLOOD GROUP, MN; MN Is also known as mn blood group

Related symptoms:

  • Neoplasm
  • Anemia
  • Leukemia


SOURCES: OMIM MENDELIAN

More info about BLOOD GROUP, MN; MN

Low match IRIDA SYNDROME


IRIDA (Iron-refractory iron deficiency anemia) syndrome is a rare autosomal recessive iron metabolism disorder characterized by iron deficiency anemia (hypochromic, microcytic) that is often unresponsive to oral iron intake and partially responsive to parenteral iron treatment.

IRIDA SYNDROME Is also known as anemia, hypochromic microcytic, with defect in iron metabolism|iron-refractory iron deficiency anemia|pseudo-iron-deficiency anemia|iron-handling disorder, hereditary

Related symptoms:

  • Intellectual disability
  • Anemia
  • Peripheral neuropathy
  • Fatigue
  • Hyperkeratosis


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about IRIDA SYNDROME

Low match LECITHIN:CHOLESTEROL ACYLTRANSFERASE DEFICIENCY


Lecithin:cholesterol acyltransferase deficiency is a disorder of lipoprotein metabolism and causes a typical triad of diffuse corneal opacities, target cell hemolytic anemia, and proteinuria with renal failure.

LECITHIN:CHOLESTEROL ACYLTRANSFERASE DEFICIENCY Is also known as lcat deficiency|norum disease

Related symptoms:

  • Anemia
  • Peripheral neuropathy
  • Renal insufficiency
  • Proteinuria
  • Abnormality of the eye


SOURCES: OMIM MENDELIAN

More info about LECITHIN:CHOLESTEROL ACYLTRANSFERASE DEFICIENCY

Low match MEGALOBLASTIC ANEMIA 1


Imerslund-Grasbeck syndrome is a form of congenital megaloblastic anemia due to vitamin B12 deficiency caused by a defect in the vitamin B12/intrinsic factor receptor. See also congenital pernicious anemia due to a defect in intrinsic factor (OMIM ).Adult pernicious anemia (OMIM ) is a distinct autoimmune disorder associated with plasma autoantibodies to gastric parietal cells or gastric intrinsic factor. In these cases, there is gastric atrophy and a relatively high frequency of associated thyroiditis and myxedema.

MEGALOBLASTIC ANEMIA 1 Is also known as pernicious anemia, juvenile, due to selective intestinal malabsorption of vitamin b12, with proteinuria|mga1|enterocyte intrinsic factor receptor, defect of|enterocyte cobalamin malabsorption|igs|imerslund-grasbeck syndrome

Related symptoms:

  • Anemia
  • Dementia
  • Proteinuria
  • Paralysis
  • Autoimmunity


SOURCES: OMIM ORPHANET MENDELIAN

More info about MEGALOBLASTIC ANEMIA 1

Low match HEMOLYTIC ANEMIA DUE TO GLUCOPHOSPHATE ISOMERASE DEFICIENCY


Glucosephosphate isomerase (GPI) deficiency is an erythroenzymopathy characterized by chronic nonspherocytic hemolytic anemia.

Related symptoms:

  • Intellectual disability
  • Ataxia
  • Muscle weakness
  • Anemia
  • Edema


SOURCES: OMIM ORPHANET MENDELIAN

More info about HEMOLYTIC ANEMIA DUE TO GLUCOPHOSPHATE ISOMERASE DEFICIENCY

Low match PRIMARY CD59 DEFICIENCY


Primary CD59 deficiency is a rare, genetic, hematologic and neurologic disease characterized by chronic, Coombs-negative hemolysis associated with early-onset, relapsing, immune-mediated, inflammatory, axonal or demyelinating, sensory-motor, peripheral polyneuropathy and isolated or recurrent cerebrovascular events (in anterior or posterior circulation).

PRIMARY CD59 DEFICIENCY Is also known as cd59 deficiency

Related symptoms:

  • Generalized hypotonia
  • Muscle weakness
  • Anemia
  • Skeletal muscle atrophy
  • Respiratory insufficiency


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about PRIMARY CD59 DEFICIENCY

Low match PORPHYRIA DUE TO ALA DEHYDRATASE DEFICIENCY


Porphyria of doss or deficiency of delta-aminolevulinic acid dehydratase (DALAD) is an extremely rare form of acute hepatic porphyria (see this term) characterized by neuro-visceral attacks without cutaneous manifestations.

PORPHYRIA DUE TO ALA DEHYDRATASE DEFICIENCY Is also known as porphyria due to alad deficiency|doss porphyria|delta-aminolevulinate dehydratase deficiency|alad porphyria|porphyria, alad|porphyria of doss|alad deficiency|porphyria due to delta-aminolevulinate dehydratase deficiency|porphobilinogen synthase deficiency

Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Failure to thrive
  • Muscular hypotonia
  • Pain


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about PORPHYRIA DUE TO ALA DEHYDRATASE DEFICIENCY

Top 5 symptoms//phenotypes associated to Anemia and Peripheral neuropathy

Symptoms // Phenotype % cases
Hemolytic anemia Uncommon - Between 30% and 50% cases
Polyneuropathy Uncommon - Between 30% and 50% cases
Neoplasm Rare - less than 30% cases
Paresthesia Rare - less than 30% cases
Paralysis Rare - less than 30% cases
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Other less frequent symptoms

Patients with Anemia and Peripheral neuropathy. may also develop some of the following symptoms:

Rare Symptoms - Less than 30% cases


Generalized hypotonia Respiratory insufficiency Proteinuria Malabsorption Pallor Muscle weakness Intellectual disability Nonspherocytic hemolytic anemia Cholecystitis Areflexia Skeletal muscle atrophy Motor axonal neuropathy Impaired neutrophil bactericidal activity Spontaneous hemolytic crises Decreased glucosephosphate isomerase activity Pigment gallstones Sensory ataxia Respiratory failure Cholelithiasis Respiratory paralysis Hydrops fetalis Wrist drop Abdominal colic Jaundice Splenomegaly Edema Hyporeflexia Limb muscle weakness Sensory neuropathy Hypertension Tachycardia Psychosis Hemiparesis Abdominal pain Constipation Behavioral abnormality Diarrhea Vomiting Pain Hematuria Muscular hypotonia Failure to thrive Seizures Ataxia Hemoglobinuria Hemolytic-uremic syndrome Increased CSF protein Hyponatremia Peripheral demyelination Paroxysmal nocturnal hemoglobinuria Confusion Malabsorption of Vitamin B12 Abnormal intestine morphology Hypocupremia Decreased mean corpuscular volume Hypochromic microcytic anemia Poikilocytosis Anisocytosis Intrahepatic cholestasis Reticulocytosis Iron deficiency anemia Microcytic anemia Ichthyosis Elevated hepcidin level Hyperkeratosis Fatigue Leukemia Late-onset spinocerebellar degeneration Glutathione synthetase deficiency Spinocerebellar tract degeneration Abnormality of metabolism/homeostasis Myopathy Hyperpigmentation of the skin Decreased serum iron Renal insufficiency Vitamin B12 deficiency Decreased HDL cholesterol concentration Poikiloderma Megaloblastic anemia Thyroiditis Sensory impairment Autoimmunity Dementia Corneal arcus Corneal crystals Normochromic anemia Precocious atherosclerosis Abnormality of the eye Foam cells Atherosclerosis Opacification of the corneal stroma Sensorimotor neuropathy Myocardial infarction Hypertriglyceridemia Abnormality of the cardiovascular system Corneal opacity Abnormality of the liver Elevated urinary delta-aminolevulinic acid



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